AutismKB 2.0

Evidence Details for SH3BP2


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Basic Information Top
Gene Symbol:SH3BP2 ( 3BP2,CRBM,CRPM,FLJ42079,FLJ54978 )
Gene Full Name: SH3-domain binding protein 2
Band: 4p16.3
Quick LinksEntrez ID:6452; OMIM: 602104; Uniprot ID:3BP2_HUMAN; ENSEMBL ID: ENSG00000087266; HGNC ID: 10825
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH3BP2|6452|nucleotide
ATGGCGGCTGAAGAGATGCATTGGCCTGTCCCTATGAAGGCCATTGGTGCCCAGAACCTGCTAACCATGCCTGGGGGCGTGGCCAAGGCTGGCTACCTGCACAAG
AAGGGCGGTACCCAGCTGCAGCTGCTGAAATGGCCCCTGCGCTTTGTCATCATCCACAAACGCTGCGTCTACTACTTCAAGAGTAGCACCTCTGCCTCCCCGCAG
GGCGCCTTCTCCCTGAGTGGCTATAACCGGGTGATGCGGGCGGCTGAGGAGACCACGTCCAACAACGTTTTCCCCTTCAAGATCATCCATATCAGCAAGAAGCAC
CGCACGTGGTTCTTCTCGGCCTCCTCCGAGGAGGAGCGCAAGAGCTGGATGGCCTTGCTGCGCAGGGAGATTGGCCACTTCCACGAAAAGAAAGACCTGCCCTTG
GACACCAGCGACTCCAGCTCGGACACAGACAGCTTCTACGGCGCAGTTGAGCGGCCTGTGGATATCAGCCTTTCCCCGTACCCCACGGACAATGAAGACTATGAG
CACGACGATGAGGATGACTCCTACCTGGAGCCTGACTCCCCGGAGCCCGGAAGGCTTGAGGATGCCCTGATGCACCCACCGGCTTACCCACCACCCCCAGTGCCC
ACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCA
GATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCC
CCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGC
TCCACTTCCAGTGCTGCCATCATGGCCACTGCCACCTCCAGAAACTGTGACAAACTCAAGTCCTTCCACCTGTCCCCCCGAGGACCACCCACATCTGAGCCCCCA
CCTGTGCCAGCCAACAAGCCCAAGTTCCTGAAGATAGCTGAAGAGGACCCCCCAAGGGAGGCAGCCATGCCCGGACTCTTTGTGCCCCCCGTGGCTCCCCGGCCT
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>SH3BP2|6452|protein
MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCVYYFKSSTSASPQGAFSLSGYNRVMRAAEETTSNNVFPFKIIHISKKH
RTWFFSASSEEERKSWMALLRREIGHFHEKKDLPLDTSDSSSDTDSFYGAVERPVDISLSPYPTDNEDYEHDDEDDSYLEPDSPEPGRLEDALMHPPAYPPPPVP
TPRKPAFSDMPRAHSFTSKGPGPLLPPPPPKHGLPDVGLAAEDSKRDPLCPRRAEPCPRVPATPRRMSDPPLSTMPTAPGLRKPPCFRESASPSPEPWTPGHGAC
STSSAAIMATATSRNCDKLKSFHLSPRGPPTSEPPPVPANKPKFLKIAEEDPPREAAMPGLFVPPVAPRPPALKLPVPEAMARPAVLPRPEKPQLPHLQRSPPDG
QSFRSFSFEKPRQPSQADTGGDDSDEDYEKVPLPNSVFVNTTESCEVERLFKATSPRGEPQDGLYCIRNSSTKSGKVLVVWDETSNKVRNYRIFEKDSKFYLEGE
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top